MCID: FML015
MIFTS: 43

Familial Nephrotic Syndrome

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Familial Nephrotic Syndrome

MalaCards integrated aliases for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 39 12 26 15
Congenital Nephrotic Syndrome 12 77 26
Finnish Congenital Nephrotic Syndrome 74
Nephrosis, Congenital 74

Classifications:



External Ids:

Disease Ontology 12 DOID:2590
MeSH 45 C535761
NCIt 51 C35337
SNOMED-CT 69 48796009
ICD10 34 N04

Summaries for Familial Nephrotic Syndrome

Disease Ontology : 12 A nephrotic syndrome that has material basis in genetic mutations.

MalaCards based summary : Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to nephrotic syndrome, type 6 and nephrotic syndrome, type 1, and has symptoms including edema An important gene associated with Familial Nephrotic Syndrome is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways/superpathways are Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, kidney and thyroid, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 77 Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3... more...

Related Diseases for Familial Nephrotic Syndrome

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3
Nephrotic Syndrome, Type 6 Nephrotic Syndrome, Type 7
Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9
Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 11
Nephrotic Syndrome, Type 12 Nephrotic Syndrome, Type 13
Nephrotic Syndrome, Type 14 Nephrotic Syndrome, Type 15
Nephrotic Syndrome, Type 16 Nephrotic Syndrome, Type 17
Nephrotic Syndrome, Type 18 Nephrotic Syndrome, Type 19
Familial Nephrotic Syndrome

Diseases related to Familial Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 6 31.3 NPHS1 NPHS2 PLCE1 WT1
2 nephrotic syndrome, type 1 30.9 ACTN4 CD2AP NPHS1 NPHS2 WT1
3 diffuse mesangial sclerosis 29.9 NPHS1 NPHS2 PLCE1 WT1
4 focal segmental glomerulosclerosis 1 29.7 ACTN4 NPHS1
5 denys-drash syndrome 29.6 CD2AP NPHS1 NPHS2 WT1
6 nephrotic syndrome 28.8 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 SGPL1
7 kidney disease 28.5 ACTN4 CD2AP CRB2 NPHS1 NPHS2 WT1
8 focal segmental glomerulosclerosis 27.6 ACTN4 CD2AP CRB2 KIRREL2 NPHS1 NPHS2
9 congenital nephrotic syndrome finnish type 12.6
10 pierson syndrome 12.1
11 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.8
12 nephrotic syndrome, type 4 11.1
13 nephrotic syndrome, type 2 11.1
14 nephrotic syndrome, type 3 11.1
15 nephrotic syndrome, type 5, with or without ocular abnormalities 11.1
16 nephrotic syndrome, type 7 11.1
17 nephrotic syndrome, type 8 11.1
18 nephrotic syndrome, type 9 11.1
19 nephrotic syndrome, type 10 11.1
20 nephrotic syndrome, type 11 11.1
21 nephrotic syndrome, type 12 11.1
22 nephrotic syndrome, type 13 11.1
23 nephrotic syndrome, type 14 11.1
24 nephrotic syndrome, type 15 11.1
25 nephrotic syndrome, type 16 11.1
26 nephrotic syndrome, type 17 11.1
27 nephrotic syndrome, type 18 11.1
28 nephrotic syndrome, type 19 11.1
29 microcoria, congenital 11.1
30 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.2 CD2AP NPHS2
31 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.2 PLCE1 WT1
32 kidney hypertrophy 10.2 NPHS1 NPHS2
33 thrombosis 10.1
34 hypothyroidism 10.1
35 nail-patella syndrome 10.1 CD2AP NPHS2
36 nephrosclerosis 10.1 NPHS1 NPHS2
37 atrial septal defect 3 10.0 CD2AP NPHS1 NPHS2
38 lipoid nephrosis 10.0 CD2AP NPHS1 NPHS2
39 hypoparathyroidism, sensorineural deafness, and renal disease 10.0 ACTN4 NPHS1 NPHS2
40 gonadal dysgenesis 10.0
41 microcephaly 10.0
42 membranous nephropathy 10.0 CD2AP NPHS1 NPHS2
43 galloway-mowat syndrome 10.0 ACTN4 NPHS1 NPHS2
44 crescentic glomerulonephritis 9.9 NPHS2 WT1
45 urinary system disease 9.9 NPHS1 NPHS2 WT1
46 iga glomerulonephritis 9.9 NPHS1 NPHS2
47 systemic lupus erythematosus 9.9
48 lupus erythematosus 9.9
49 cytomegalovirus infection 9.9
50 wilms tumor 1 9.9 NPHS1 NPHS2 WT1

Graphical network of the top 20 diseases related to Familial Nephrotic Syndrome:



Diseases related to Familial Nephrotic Syndrome

Symptoms & Phenotypes for Familial Nephrotic Syndrome

UMLS symptoms related to Familial Nephrotic Syndrome:


edema

MGI Mouse Phenotypes related to Familial Nephrotic Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ACTN4 CD2AP CRB2 NPHS2 PLCE1 SGPL1
2 growth/size/body region MP:0005378 9.7 ACTN4 CD2AP CRB2 KIRREL3 NPHS2 SGPL1
3 homeostasis/metabolism MP:0005376 9.5 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 SGPL1
4 renal/urinary system MP:0005367 9.1 ACTN4 CD2AP NPHS1 NPHS2 SGPL1 WT1

Drugs & Therapeutics for Familial Nephrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Nephrotic Syndrome

Genetic Tests for Familial Nephrotic Syndrome

Anatomical Context for Familial Nephrotic Syndrome

MalaCards organs/tissues related to Familial Nephrotic Syndrome:

42
Kidney, Thyroid, Lung, Placenta, Pituitary, Brain, Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Familial Nephrotic Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Podocyte Layer Podocytes Affected by disease, potential therapeutic candidate

Publications for Familial Nephrotic Syndrome

Articles related to Familial Nephrotic Syndrome:

(show top 50) (show all 329)
# Title Authors Year
1
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. ( 30963316 )
2019
2
The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic? ( 31013750 )
2019
3
Auto-immune Thyroiditis in an Infant Masquerading as Congenital Nephrotic Syndrome. ( 30128632 )
2019
4
Infants with congenital nephrotic syndrome have comparable outcomes to infants with other renal diseases. ( 30374605 )
2019
5
Treatment and outcome of congenital nephrotic syndrome. ( 29474669 )
2019
6
Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Questions. ( 29959530 )
2019
7
Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Answers. ( 29959533 )
2019
8
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome. ( 30594156 )
2018
9
Management of children with congenital nephrotic syndrome: challenging treatment paradigms. ( 30215773 )
2018
10
Bilateral pulmonary thrombosis in a newborn with congenital nephrotic syndrome. ( 29469202 )
2018
11
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. ( 29663071 )
2018
12
Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan. ( 29185126 )
2018
13
Case Report: A Toddler With Anasarca Caused by Congenital Nephrotic Syndrome. ( 28860961 )
2017
14
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. ( 29244787 )
2017
15
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. ( 28392951 )
2017
16
Spontaneous evisceration of umbilical hernia in a patient with congenital nephrotic syndrome. ( 28507377 )
2017
17
Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. ( 28683731 )
2017
18
Erratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. ( 28818041 )
2017
19
Vomiting in an infant with congenital nephrotic syndrome: Questions. ( 27757585 )
2017
20
Vomiting in infant with congenital nephrotic syndrome: Answers. ( 27757586 )
2017
21
MAGI2 Mutations Cause Congenital Nephrotic Syndrome. ( 27932480 )
2017
22
Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome. ( 28160156 )
2017
23
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. ( 28181337 )
2017
24
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome. ( 26882358 )
2016
25
Early recognition of gonadal dysgenesis in congenital nephrotic syndrome‚Ä©. ( 27719739 )
2016
26
Sonographic Diagnosis in a Rare Aetiology of Neonatal Scrotal Swellings: A Case Report of Congenital Nephrotic Syndrome. ( 27757175 )
2016
27
Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry. ( 27761660 )
2016
28
Congenital nephrotic syndrome with a novel NPHS1 mutation. ( 27882743 )
2016
29
The etiology of congenital nephrotic syndrome: current status and challenges. ( 26961288 )
2016
30
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. ( 27004562 )
2016
31
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome. ( 27019444 )
2016
32
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. ( 27325525 )
2016
33
Congenital Nephrotic Syndrome - Finish Type. ( 27594755 )
2016
34
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. ( 26560236 )
2016
35
Recurrence of nephrotic syndrome following kidney transplantation in a child with congenital nephrotic syndrome. ( 26787584 )
2016
36
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions. ( 25947087 )
2016
37
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. ( 25956699 )
2016
38
Domiciliary administration of intravenous albumin in congenital nephrotic syndrome. ( 26248471 )
2015
39
AJKD Atlas of Renal Pathology: Congenital Nephrotic Syndrome of Finnish Type. ( 26300201 )
2015
40
Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family. ( 25143137 )
2015
41
Response to childhood immunizations in congenital nephrotic syndrome. ( 25208314 )
2015
42
Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort. ( 25635037 )
2015
43
Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation. ( 25711261 )
2015
44
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. ( 25729976 )
2015
45
Diagnosis of peritoneal-pleural communication by peritoneography with (99m)Tc-sulfur colloid in a 3-year-old girl with congenital nephrotic syndrome of the Finnish type. ( 24816127 )
2015
46
Multigene involvement in congenital nephrotic syndrome. ( 24658205 )
2014
47
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation. ( 24682440 )
2014
48
Pierson syndrome - a rare cause of congenital nephrotic syndrome. ( 24944146 )
2014
49
Thrombotic complications of neonates and children with congenital nephrotic syndrome. ( 25088336 )
2014
50
Adrenal insufficiency in association with congenital nephrotic syndrome: a case report. ( 24633749 )
2014

Variations for Familial Nephrotic Syndrome

Expression for Familial Nephrotic Syndrome

Search GEO for disease gene expression data for Familial Nephrotic Syndrome.

Pathways for Familial Nephrotic Syndrome

GO Terms for Familial Nephrotic Syndrome

Cellular components related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.46 ACTN4 CD2AP CRB2 NPHS2
2 cell-cell junction GO:0005911 9.26 ACTN4 CD2AP KIRREL2 NPHS2
3 slit diaphragm GO:0036057 8.8 KIRREL2 NPHS1 NPHS2

Biological processes related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hemopoiesis GO:0030097 9.32 KIRREL3 SGPL1
2 vasculogenesis GO:0001570 9.26 SGPL1 WT1
3 excretion GO:0007588 9.16 NPHS1 NPHS2
4 glomerular basement membrane development GO:0032836 8.96 NPHS1 WT1
5 glomerulus development GO:0032835 8.62 PLCE1 WT1

Sources for Familial Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....